8-132029105-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001080399.3(OC90):c.1106C>T(p.Ser369Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,613,860 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001080399.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OC90 | ENST00000254627.4 | c.1106C>T | p.Ser369Leu | missense_variant | Exon 13 of 14 | 2 | NM_001080399.3 | ENSP00000254627.3 | ||
ENSG00000258417 | ENST00000262283.5 | c.1742C>T | p.Ser581Leu | missense_variant | Exon 17 of 18 | 5 | ENSP00000262283.5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 249230Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135192
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461550Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727044
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1106C>T (p.S369L) alteration is located in exon 13 (coding exon 12) of the OC90 gene. This alteration results from a C to T substitution at nucleotide position 1106, causing the serine (S) at amino acid position 369 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at